| Literature DB >> 26432165 |
Shilpa D Kulkarni1, Rafat Sayed2, Meenal Garg2, Varsha A Patil2.
Abstract
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.Entities:
Keywords: Asymmetry; Charcot–Marie–Tooth 1A; Charcot–Marie–Tooth disease; Cranial nerve involvement; Hereditary motor and sensory neuropathy; PMP22 gene
Mesh：
Year: 2015 PMID： 26432165 DOI： 10.1016/j.nmd.2015.09.002
Source DB: PubMed Journal: Neuromuscul Disord ISSN： 0960-8966 Impact factor: 4.296